nsv7231
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:83,128
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047488600_N24'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048565800_N9'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050136800_P2'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050189800_G8'
- TRACE: TEMPLATE_ID='165422_ABC7_000042391000_D7'
- TRACE: TEMPLATE_ID='165729_ABC7_000042518800_D23'
- TRACE: TEMPLATE_ID='165766_ABC8_000005691249_D15'
- TRACE: TEMPLATE_ID='165807_ABC8_000005713149_A10'
- TRACE: TEMPLATE_ID='166475_ABC7_000000618422_P21'
- TRACE: TEMPLATE_ID='166640_ABC7_000043045300_E19'
- TRACE: TEMPLATE_ID='166910_ABC8_000043202600_M17'
- TRACE: TEMPLATE_ID='166910_ABC8_000043251700_D22'
- TRACE: TEMPLATE_ID='166910_ABC8_000043252200_L5'
- TRACE: TEMPLATE_ID='167000_ABC8_000000737440_L14'
- TRACE: TEMPLATE_ID='167000_ABC8_000002146240_K16'
- TRACE: TEMPLATE_ID='167098_ABC8_000040886100_L9'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000045917200_C2'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043906200_E14'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043917300_A7'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043954100_L4'
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 363 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7231 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 80,420,176 | 80,503,303 |
| nsv7231 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 80,813,956 | 80,897,082 |
| nsv7231 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 79,316,424 | 79,399,550 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv9841 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv9284 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv9842 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv5439 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv6518 | inversion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv9285 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv10875 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv9841 | Remapped | Pass | NC_000012.12:g.(80 420176_?)_(8045444 5_?)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,420,176 | - | 80,454,445 | - |
| nssv9284 | Remapped | Pass | NC_000012.12:g.(80 424557_?)_(8045444 5_?)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,424,557 | - | 80,454,445 | - |
| nssv9842 | Remapped | Good | NC_000012.12:g.(80 454353_?)_(?_80498 951)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,454,353 | - | - | 80,498,951 |
| nssv5439 | Remapped | Pass | NC_000012.12:g.(?_ 80461952)_(?_80495 826)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | - | 80,461,952 | - | 80,495,826 |
| nssv6518 | Remapped | Pass | NC_000012.12:g.(?_ 80461952)_(?_80498 416)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | - | 80,461,952 | - | 80,498,416 |
| nssv9285 | Remapped | Pass | NC_000012.12:g.(?_ 80461952)_(?_80498 924)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | - | 80,461,952 | - | 80,498,924 |
| nssv10875 | Remapped | Pass | NC_000012.12:g.(?_ 80461952)_(?_80503 303)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | - | 80,461,952 | - | 80,503,303 |
| nssv9841 | Remapped | Perfect | NC_000012.11:g.(80 813956_?)_(?_80854 174)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,813,956 | - | - | 80,854,174 |
| nssv9284 | Remapped | Perfect | NC_000012.11:g.(80 818337_?)_(?_80853 303)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,818,337 | - | - | 80,853,303 |
| nssv9842 | Remapped | Perfect | NC_000012.11:g.(80 848133_?)_(?_80892 730)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,848,133 | - | - | 80,892,730 |
| nssv10875 | Remapped | Perfect | NC_000012.11:g.(80 848593_?)_(?_80897 082)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,848,593 | - | - | 80,897,082 |
| nssv5439 | Remapped | Perfect | NC_000012.11:g.(80 849801_?)_(?_80889 605)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,849,801 | - | - | 80,889,605 |
| nssv9285 | Remapped | Perfect | NC_000012.11:g.(80 849924_?)_(?_80892 703)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,849,924 | - | - | 80,892,703 |
| nssv6518 | Remapped | Perfect | NC_000012.11:g.(80 850792_?)_(?_80892 195)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,850,792 | - | - | 80,892,195 |
| nssv9841 | Submitted genomic | NC_000012.9:g.(793 16424_?)_(?_793566 42)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,316,424 | - | - | 79,356,642 | ||
| nssv9284 | Submitted genomic | NC_000012.9:g.(793 20805_?)_(?_793557 71)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,320,805 | - | - | 79,355,771 | ||
| nssv9842 | Submitted genomic | NC_000012.9:g.(793 50601_?)_(?_793951 98)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,350,601 | - | - | 79,395,198 | ||
| nssv10875 | Submitted genomic | NC_000012.9:g.(793 51061_?)_(?_793995 50)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,351,061 | - | - | 79,399,550 | ||
| nssv5439 | Submitted genomic | NC_000012.9:g.(793 52269_?)_(?_793920 73)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,352,269 | - | - | 79,392,073 | ||
| nssv9285 | Submitted genomic | NC_000012.9:g.(793 52392_?)_(?_793951 71)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,352,392 | - | - | 79,395,171 | ||
| nssv6518 | Submitted genomic | NC_000012.9:g.(793 53260_?)_(?_793946 63)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 79,353,260 | - | - | 79,394,663 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv5439 | 3 | NA19129 | Multiple complete digestion | MCD analysis | Pass |
| nssv9284 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |